Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828815296

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205798

ClinVar RCV Id: RCV000187786 RCV002517868

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001366127.1:p.Ser845Asn